Howell-Evans syndrome Flashcards

1
Q

Howell-Evans syndrome sketch:

A

Think about Evan from medical school and he is howling like a wolf.

  • He was a big, dominant guy reminding you of autosomal dominant inheritance
  • He was so built from lifting that his body was the shape of a rhomboid, this reminds you of the RHBDF2 (rhomboid 5 homolog 2) gene mutation
  • He is making a tik TOC, to remind you of the TOC (tylosis and esophageal Cancer gene locus)

- He has focal-weight bearing, non-transgradiens PPK (think of calluses) that he got from lifting so much in his 20’s (PPK starts in second decade)

  • He is Howling to remind you of the esophageal carcinoma and oral leukoplakia that are seen in third decade of life
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